Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

5,996 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
Hemati P, Revah-Politi A, Bassan H, Petrovski S, Bilancia CG, Ramsey K, Griffin NG, Bier L, Cho MT, Rosello M, Lynch SA, Colombo S, Weber A, Haug M, Heinzen EL, Sands TT, Narayanan V, Primiano M, Aggarwal VS, Millan F, Sattler-Holtrop SG, Caro-Llopis A, Pillar N, Baker J, Freedman R, Kroes HY, Sacharow S, Stong N, Lapunzina P, Schneider MC, Mendelsohn NJ, Singleton A, Loik Ramey V, Wou K, Kuzminsky A, Monfort S, Weiss M, Doyle S, Iglesias A, Martinez F, Mckenzie F, Orellana C, van Gassen KLI, Palomares M, Bazak L, Lee A, Bircher A, Basel-Vanagaite L, Hafström M, Houge G; C4RCD Research Group; DDD study; Goldstein DB, Anyane-Yeboa K. Hemati P, et al. Among authors: weiss m. Am J Med Genet A. 2018 Nov;176(11):2259-2275. doi: 10.1002/ajmg.a.40472. Epub 2018 Sep 8. Am J Med Genet A. 2018. PMID: 30194818 Review.
NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield.
Overwater E, Floor K, van Beek D, de Boer K, van Dijk T, Hilhorst-Hofstee Y, Hoogeboom AJM, van Kaam KJ, van de Kamp JM, Kempers M, Krapels IPC, Kroes HY, Loeys B, Salemink S, Stumpel CTRM, Verhoeven VJM, Wijnands-van den Berg E, Cobben JM, van Tintelen JP, Weiss MM, Houweling AC, Maugeri A. Overwater E, et al. Among authors: weiss mm. Eur J Med Genet. 2017 Sep;60(9):465-473. doi: 10.1016/j.ejmg.2017.06.005. Epub 2017 Jun 19. Eur J Med Genet. 2017. PMID: 28642162
Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy.
Otten E, Lekanne Dit Deprez RH, Weiss MM, van Slegtenhorst M, Joosten M, van der Smagt JJ, de Jonge N, Kerstjens-Frederikse WS, Roofthooft MT, Balk AH, van den Berg MP, Ruiter JS, van Tintelen JP. Otten E, et al. Among authors: weiss mm. Neth Heart J. 2010 Oct;18(10):478-85. doi: 10.1007/BF03091819. Neth Heart J. 2010. PMID: 20978592 Free PMC article.
The power of personas: Exploring an innovative model for understanding stakeholder perspectives in an oncology learning health network.
Cooper DJ, Karten J, Hoffe SE, King DA, Weiss M, DePeralta DK, Coveler AL, Hingorani SR, Shefter T, Meguid C, Roberts H, Hong TS, Narang A, Hacker-Prietz A, Fisher GA, Sandler J, Singer L, Korah B, Hoos W, Stricker CT, Herman JM. Cooper DJ, et al. Among authors: weiss m. Learn Health Syst. 2024 May 27;9(1):e10422. doi: 10.1002/lrh2.10422. eCollection 2025 Jan. Learn Health Syst. 2024. PMID: 39822915 Free PMC article.
HiFi long-read genomes for difficult-to-detect, clinically relevant variants.
Höps W, Weiss MM, Derks R, Galbany JC, Ouden AD, van den Heuvel S, Timmermans R, Smits J, Mokveld T, Dolzhenko E, Chen X, van den Wijngaard A, Eberle MA, Yntema HG, Hoischen A, Gilissen C, Vissers LELM. Höps W, et al. Among authors: weiss mm. Am J Hum Genet. 2025 Jan 4:S0002-9297(24)00455-5. doi: 10.1016/j.ajhg.2024.12.013. Online ahead of print. Am J Hum Genet. 2025. PMID: 39809270
Differences in association between hypoalbuminaemia and mortality among younger versus older patients on haemodialysis.
Sanz-García C, Rodríguez-García M, Górriz-Teruel JL, Martín-Carro B, Floege J, Díaz-López B, Palomo-Antequera C, Sánchez-Alvarez E, Gómez-Alonso C, Fernández-Gómez J, Hevia-Suárez MÁ, Navarro-González JF, Arenas MD, Locatelli F, Zoccali C, Ferreira A, Alonso-Montes C, Cannata-Andía JB, Carrero JJ, Fernández-Martín JL; COSMOS. Sanz-García C, et al. Clin Kidney J. 2024 Nov 13;18(1):sfae339. doi: 10.1093/ckj/sfae339. eCollection 2025 Jan. Clin Kidney J. 2024. PMID: 39781478 Free PMC article.
5,996 results